Gene Symbol | HNRNPA1 |
Entrez Gene ID | 3178 |
Full Name | heterogeneous nuclear ribonucleoprotein A1 |
Synonyms | ALS19,ALS20,HNRPA1,HNRPA1L3,IBMPFD3,UP 1,hnRNP A1,hnRNP-A1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016]. |
Disorder MIM: | |
Disorder Html: | ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3); Amyotrophic lateral sclerosis 20, 615426 (3) |